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rs80358038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358038(A;A)
Make rs80358038(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115721
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358038
dbSNP (classic)rs80358038
ClinGenrs80358038
ebirs80358038
HLIrs80358038
Exacrs80358038
Gnomadrs80358038
Varsomers80358038
LitVarrs80358038
Maprs80358038
PheGenIrs80358038
Biobankrs80358038
1000 genomesrs80358038
hgdprs80358038
ensemblrs80358038
geneviewrs80358038
scholarrs80358038
googlers80358038
pharmgkbrs80358038
gwascentralrs80358038
openSNPrs80358038
23andMers80358038
SNPshotrs80358038
SNPdbers80358038
MSV3drs80358038
GWAS Ctlgrs80358038
Max Magnitude6
ClinVar
Risk rs80358038(A;A) rs80358038(C;C) rs80358038(T;T)
Alt rs80358038(A;A) rs80358038(C;C) rs80358038(T;T)
Reference Rs80358038(G;G)
Significance Other
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41267738C>A; NC_000017.10:g.41267738C>G; NC_000017.10:g.41267738C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000083020.2, RCV000030981.3, RCV000077065.4,